Linked Data
ClinVar Variation Id:
2836795
ClinVar RCV Id:
RCV003690271
MyVariant Identifiers:
chr10:g.103990739C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102230982C>A , CM000672.2:g.102230982C>A | GRCh38 |
| NC_000010.10:g.103990739C>A , CM000672.1:g.103990739C>A | GRCh37 |
| NC_000010.9:g.103980729C>A | NCBI36 |
| NG_008147.1:g.15493G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370002.8:c.441G>T (PITX3) MANE Select | ENSP00000359019.3:p.Val147= | |
| ENST00000370002.7:c.441G>T (PITX3) | ENSP00000359019.3:p.Val147= | |
| ENST00000539804.1:c.441G>T (PITX3) | ENSP00000439383.1:p.Val147= | |
| NM_005029.3:c.441G>T (PITX3) | NP_005020.1:p.Val147= | |
| XM_011539865.1:c.459G>T (PITX3) | XP_011538167.1:p.Val153= | |
| NM_005029.4:c.441G>T (PITX3) MANE Select | NP_005020.1:p.Val147= | |
| NM_001391923.1:c.-11+66C>A (GBF1) | NP_001378852.1:n.-11+66C>A | |
| NM_001391924.1:c.-149+66C>A (GBF1) | NP_001378853.1:n.-149+66C>A |